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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Authors :
Couch, FJ
Kuchenbaecker, KB
Michailidou, K
Mendoza-Fandino, GA
Nord, S
Lilyquist, J
Olswold, C
Hallberg, E
Agata, S
Ahsan, H
Aittomaeki, K
Ambrosone, C
Andrulis, IL
Anton-Culver, H
Arndt, V
Arun, BK
Arver, B
Barile, M
Barkardottir, RB
Barrowdale, D
Beckmann, L
Beckmann, MW
Benitez, J
Blank, SV
Blomqvist, C
Bogdanova, NV
Bojesen, SE
Bolla, MK
Bonanni, B
Brauch, H
Brenner, H
Burwinkel, B
Buys, SS
Caldes, T
Caligo, MA
Canzian, F
Carpenter, J
Chang-Claude, J
Chanock, SJ
Chung, WK
Claes, KBM
Cox, A
Cross, SS
Cunningham, JM
Czene, K
Daly, MB
Damiola, F
Darabi, H
de la Hoya, M
Devilee, P
Diez, O
Ding, YC
Dolcetti, R
Domchek, SM
Dorfling, CM
dos-Santos-Silva, I
Dumont, M
Dunning, AM
Eccles, DM
Ehrencrona, H
Ekici, AB
Eliassen, H
Ellis, S
Fasching, PA
Figueroa, J
Flesch-Janys, D
Foersti, A
Fostira, F
Foulkes, WD
Friebel, T
Friedman, E
Frost, D
Gabrielson, M
Gammon, MD
Ganz, PA
Gapstur, SM
Garber, J
Gaudet, MM
Gayther, SA
Gerdes, A-M
Ghoussaini, M
Giles, GG
Glendon, G
Godwin, AK
Goldberg, MS
Goldgar, DE
Gonzalez-Neira, A
Greene, MH
Gronwald, J
Guenel, P
Gunter, M
Haeberle, L
Haiman, CA
Hamann, U
Hansen, TVO
Hart, S
Healey, S
Heikkinen, T
Henderson, BE
Herzog, J
Hogervorst, FBL
Hollestelle, A
Hooning, MJ
Hoover, RN
Hopper, JL
Humphreys, K
Hunter, DJ
Huzarski, T
Imyanitov, EN
Isaacs, C
Jakubowska, A
James, P
Janavicius, R
Jensen, UB
John, EM
Jones, M
Kabisch, M
Kar, S
Karlan, BY
Khan, S
Khaw, K-T
Kibriya, MG
Knight, JA
Ko, Y-D
Konstantopoulou, I
Kosma, V-M
Kristensen, V
Kwong, A
Laitman, Y
Lambrechts, D
Lazaro, C
Lee, E
Le Marchand, L
Lester, J
Lindblom, A
Lindor, N
Lindstrom, S
Liu, J
Long, J
Lubinski, J
Mai, PL
Makalic, E
Malone, KE
Mannermaa, A
Manoukian, S
Margolin, S
Marme, F
Martens, JWM
McGuffog, L
Meindl, A
Miller, A
Milne, RL
Miron, P
Montagna, M
Mazoyer, S
Mulligan, AM
Muranen, TA
Nathanson, KL
Neuhausen, SL
Nevanlinna, H
Nordestgaard, BG
Nussbaum, RL
Offit, K
Olah, E
Olopade, OI
Olson, JE
Osorio, A
Park, SK
Peeters, PH
Peissel, B
Peterlongo, P
Peto, J
Phelan, CM
Pilarski, R
Poppe, B
Pylkaes, K
Radice, P
Rahman, N
Rantala, J
Rappaport, C
Rennert, G
Richardson, A
Robson, M
Romieu, I
Rudolph, A
Rutgers, EJ
Sanchez, M-J
Santella, RM
Sawyer, EJ
Schmidt, DF
Schmidt, MK
Schmutzler, RK
Schumacher, F
Scott, R
Senter, L
Sharma, P
Simard, J
Singer, CF
Sinilnikova, OM
Soucy, P
Southey, M
Steinemann, D
Stenmark-Askmalm, M
Stoppa-Lyonnet, D
Swerdlow, A
Szabo, CI
Tamimi, R
Tapper, W
Teixeira, MR
Teo, S-H
Terry, MB
Thomassen, M
Thompson, D
Tihomirova, L
Toland, AE
Tollenaar, RAEM
Tomlinson, I
Truong, T
Tsimiklis, H
Teule, A
Tumino, R
Tung, N
Turnbull, C
Ursin, G
van Deurzen, CHM
van Rensburg, EJ
Varon-Mateeva, R
Wang, Z
Wang-Gohrke, S
Weiderpass, E
Weitzel, JN
Whittemore, A
Wildiers, H
Winqvist, R
Yang, XR
Yannoukakos, D
Yao, S
Zamora, MP
Zheng, W
Hall, P
Kraft, P
Vachon, C
Slager, S
Chenevix-Trench, G
Pharoah, PDP
Monteiro, AAN
Garcia-Closas, M
Easton, DF
Antoniou, AC
Couch, FJ
Kuchenbaecker, KB
Michailidou, K
Mendoza-Fandino, GA
Nord, S
Lilyquist, J
Olswold, C
Hallberg, E
Agata, S
Ahsan, H
Aittomaeki, K
Ambrosone, C
Andrulis, IL
Anton-Culver, H
Arndt, V
Arun, BK
Arver, B
Barile, M
Barkardottir, RB
Barrowdale, D
Beckmann, L
Beckmann, MW
Benitez, J
Blank, SV
Blomqvist, C
Bogdanova, NV
Bojesen, SE
Bolla, MK
Bonanni, B
Brauch, H
Brenner, H
Burwinkel, B
Buys, SS
Caldes, T
Caligo, MA
Canzian, F
Carpenter, J
Chang-Claude, J
Chanock, SJ
Chung, WK
Claes, KBM
Cox, A
Cross, SS
Cunningham, JM
Czene, K
Daly, MB
Damiola, F
Darabi, H
de la Hoya, M
Devilee, P
Diez, O
Ding, YC
Dolcetti, R
Domchek, SM
Dorfling, CM
dos-Santos-Silva, I
Dumont, M
Dunning, AM
Eccles, DM
Ehrencrona, H
Ekici, AB
Eliassen, H
Ellis, S
Fasching, PA
Figueroa, J
Flesch-Janys, D
Foersti, A
Fostira, F
Foulkes, WD
Friebel, T
Friedman, E
Frost, D
Gabrielson, M
Gammon, MD
Ganz, PA
Gapstur, SM
Garber, J
Gaudet, MM
Gayther, SA
Gerdes, A-M
Ghoussaini, M
Giles, GG
Glendon, G
Godwin, AK
Goldberg, MS
Goldgar, DE
Gonzalez-Neira, A
Greene, MH
Gronwald, J
Guenel, P
Gunter, M
Haeberle, L
Haiman, CA
Hamann, U
Hansen, TVO
Hart, S
Healey, S
Heikkinen, T
Henderson, BE
Herzog, J
Hogervorst, FBL
Hollestelle, A
Hooning, MJ
Hoover, RN
Hopper, JL
Humphreys, K
Hunter, DJ
Huzarski, T
Imyanitov, EN
Isaacs, C
Jakubowska, A
James, P
Janavicius, R
Jensen, UB
John, EM
Jones, M
Kabisch, M
Kar, S
Karlan, BY
Khan, S
Khaw, K-T
Kibriya, MG
Knight, JA
Ko, Y-D
Konstantopoulou, I
Kosma, V-M
Kristensen, V
Kwong, A
Laitman, Y
Lambrechts, D
Lazaro, C
Lee, E
Le Marchand, L
Lester, J
Lindblom, A
Lindor, N
Lindstrom, S
Liu, J
Long, J
Lubinski, J
Mai, PL
Makalic, E
Malone, KE
Mannermaa, A
Manoukian, S
Margolin, S
Marme, F
Martens, JWM
McGuffog, L
Meindl, A
Miller, A
Milne, RL
Miron, P
Montagna, M
Mazoyer, S
Mulligan, AM
Muranen, TA
Nathanson, KL
Neuhausen, SL
Nevanlinna, H
Nordestgaard, BG
Nussbaum, RL
Offit, K
Olah, E
Olopade, OI
Olson, JE
Osorio, A
Park, SK
Peeters, PH
Peissel, B
Peterlongo, P
Peto, J
Phelan, CM
Pilarski, R
Poppe, B
Pylkaes, K
Radice, P
Rahman, N
Rantala, J
Rappaport, C
Rennert, G
Richardson, A
Robson, M
Romieu, I
Rudolph, A
Rutgers, EJ
Sanchez, M-J
Santella, RM
Sawyer, EJ
Schmidt, DF
Schmidt, MK
Schmutzler, RK
Schumacher, F
Scott, R
Senter, L
Sharma, P
Simard, J
Singer, CF
Sinilnikova, OM
Soucy, P
Southey, M
Steinemann, D
Stenmark-Askmalm, M
Stoppa-Lyonnet, D
Swerdlow, A
Szabo, CI
Tamimi, R
Tapper, W
Teixeira, MR
Teo, S-H
Terry, MB
Thomassen, M
Thompson, D
Tihomirova, L
Toland, AE
Tollenaar, RAEM
Tomlinson, I
Truong, T
Tsimiklis, H
Teule, A
Tumino, R
Tung, N
Turnbull, C
Ursin, G
van Deurzen, CHM
van Rensburg, EJ
Varon-Mateeva, R
Wang, Z
Wang-Gohrke, S
Weiderpass, E
Weitzel, JN
Whittemore, A
Wildiers, H
Winqvist, R
Yang, XR
Yannoukakos, D
Yao, S
Zamora, MP
Zheng, W
Hall, P
Kraft, P
Vachon, C
Slager, S
Chenevix-Trench, G
Pharoah, PDP
Monteiro, AAN
Garcia-Closas, M
Easton, DF
Antoniou, AC
Publication Year :
2016

Abstract

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

Details

Database :
OAIster
Publication Type :
Electronic Resource
Accession number :
edsoai.on1315714469
Document Type :
Electronic Resource